Gene Symbol:	TBX1 ( CAFS,CTHM,DGCR,DGS,DORV,TBX1C,TGA,VCFS )
Gene Full Name:	T-box 1
Band:	22q11.21
Quick Links	Entrez ID:6899; OMIM: 602054; Uniprot ID:TBX1_HUMAN; ENSEMBL ID: ENSG00000184058; HGNC ID: 11592
Relate to Another Database:	SFARIGene; denovo-db

GO ID	Evidence	Qualifier	GO_term	References
GO:0003700	IDA	NOT	transcription factor activity, sequence-specific DNA binding	11111039
GO:0042803	IDA	-	protein homodimerization activity	11111039
GO:0043565	IDA	-	sequence-specific DNA binding	11111039

GO ID	Evidence	Qualifier	GO_term	References
GO:0001525	ISS	-	angiogenesis	-
GO:0001568	ISS	-	blood vessel development	-
GO:0001708	ISS	-	cell fate specification	-
GO:0001755	ISS	-	neural crest cell migration	-
GO:0001934	ISS	-	positive regulation of protein phosphorylation	-
GO:0001945	ISS	-	lymph vessel development	-
GO:0002053	ISS	-	positive regulation of mesenchymal cell proliferation	-
GO:0003007	ISS	-	heart morphogenesis	-
GO:0003148	ISS	-	outflow tract septum morphogenesis	-
GO:0003151	ISS	-	outflow tract morphogenesis	-
GO:0006351	IEA	-	transcription, DNA-templated	-
GO:0006357	ISS	-	regulation of transcription from RNA polymerase II promoter	-
GO:0006357	NAS	-	regulation of transcription from RNA polymerase II promoter	9268629
GO:0007368	ISS	-	determination of left/right symmetry	-
GO:0007389	ISS	-	pattern specification process	-
GO:0007498	ISS	-	mesoderm development	-
GO:0007507	IMP	-	heart development	14585638
GO:0007517	ISS	-	muscle organ development	-
GO:0007605	ISS	-	sensory perception of sound	-
GO:0008283	ISS	-	cell proliferation	-
GO:0008284	ISS	-	positive regulation of cell proliferation	-
GO:0009952	ISS	-	anterior/posterior pattern specification	-
GO:0021644	ISS	-	vagus nerve morphogenesis	-
GO:0030855	ISS	-	epithelial cell differentiation	-
GO:0030878	ISS	-	thyroid gland development	-
GO:0035176	ISS	-	social behavior	-
GO:0035909	ISS	-	aorta morphogenesis	-
GO:0042471	ISS	-	ear morphogenesis	-
GO:0042472	ISS	-	inner ear morphogenesis	-
GO:0042473	ISS	-	outer ear morphogenesis	-
GO:0042474	ISS	-	middle ear morphogenesis	-
GO:0042475	ISS	-	odontogenesis of dentin-containing tooth	-
GO:0042693	ISS	-	muscle cell fate commitment	-
GO:0043410	ISS	-	positive regulation of MAPK cascade	-
GO:0043587	ISS	-	tongue morphogenesis	-
GO:0044344	ISS	-	cellular response to fibroblast growth factor stimulus	-
GO:0045596	ISS	-	negative regulation of cell differentiation	-
GO:0045893	ISS	-	positive regulation of transcription, DNA-templated	-
GO:0045944	ISS	-	positive regulation of transcription from RNA polymerase II promoter	-
GO:0048384	ISS	-	retinoic acid receptor signaling pathway	-
GO:0048514	ISS	-	blood vessel morphogenesis	-
GO:0048538	IMP	-	thymus development	14585638
GO:0048644	ISS	-	muscle organ morphogenesis	-
GO:0048701	ISS	-	embryonic cranial skeleton morphogenesis	-
GO:0048703	IMP	-	embryonic viscerocranium morphogenesis	14585638
GO:0048752	ISS	-	semicircular canal morphogenesis	-
GO:0048844	ISS	-	artery morphogenesis	-
GO:0050679	ISS	-	positive regulation of epithelial cell proliferation	-
GO:0060017	IMP	-	parathyroid gland development	14585638
GO:0060023	IMP	-	soft palate development	14585638
GO:0060037	IMP	-	pharyngeal system development	14585638
GO:0060325	ISS	-	face morphogenesis	-
GO:0060415	ISS	-	muscle tissue morphogenesis	-
GO:0060982	ISS	-	coronary artery morphogenesis	-
GO:0070166	ISS	-	enamel mineralization	-
GO:0071300	ISS	-	cellular response to retinoic acid	-
GO:0090103	ISS	-	cochlea morphogenesis	-
GO:0097152	ISS	-	mesenchymal cell apoptotic process	-
GO:2000027	ISS	-	regulation of organ morphogenesis	-
GO:2001037	ISS	-	positive regulation of tongue muscle cell differentiation	-
GO:2001054	ISS	-	negative regulation of mesenchymal cell apoptotic process	-

AutismKB 2.0

Annotation Details for TBX1